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NIH framework points the way forward for building national, large-scale research cohort, a key component of the President’s Precision Medicine Initiative

The National Institutes of Health Advisory Committee to the Director (ACD) today presented to NIH Director Francis S. Collins, M.D., Ph.D., a detailed design framework for building a national research participant group, called a cohort, of 1 million or more Americans to expand our knowledge and practice of precision medicine. Dr. Collins embraced the design recommendations made by the ACD, noting the need to remain nimble and adaptable as the Initiative progresses. He also thanked the Committee for their recommendations on policy issues and welcomed the opportunity to review them. NIH plans to move quickly to build the infrastructure so that participants can begin enrolling in the cohort in 2016, with a goal of enrolling at least 1 million participants in three to four years.

“We have an incredible opportunity to advance research and make new medical breakthroughs through precision medicine, which tailors disease prevention and treatment to individuals based on genetics, environment and lifestyle,” said Department of Health and Human Services Secretary Sylvia M. Burwell.

In order to advance this approach to medicine, President Obama proposed the Precision Medicine Initiative, which aims to enable a new era of medicine through research, technology and policies that empower patients, researchers and providers to work together toward development of individualized care. The Initiative includes many components with efforts from across the federal government and was budgeted at $215 million in fiscal year 2016 by the President. NIH will lead efforts in cancer genomics, as well as the development of the participant cohort. Of the total proposed in FY16, $130 million was allocated to NIH to build the research cohort.

Dr. Collins established the Precision Medicine Initiative Working Group of his ACD and tasked the group to develop a plan for creating and managing a large research cohort, with data and specimens that can be accessed by all researchers, for studies to understand the variables that contribute to health and disease, with the ultimate goal of developing more effective treatments tailored to individuals. The report drafted by the working group makes numerous recommendations on cohort assembly, participant engagement, data, biological specimens, policy and governance. The recommendations are based on a set of high-value scientific opportunities that were identified by the working group following extensive stakeholder engagement, including four public workshops and two requests for information. Among the scientific opportunities presented by this cohort is the ability to:

develop quantitative estimates of risk for a range of diseases by integrating environmental exposures, genetic factors and gene-environment interactions;

identify the causes of individual variation in response to commonly used therapeutics (commonly referred to as pharmacogenomics);

discover biological markers that signal increased or decreased risk of developing common diseases;

empower study participants with data and information to improve their own health; and

create a platform to enable trials of targeted therapies.

“Many factors have converged to make now the right time to begin this ambitious project,” said Dr. Collins. “Americans are engaging in improving their health and participating in health research more than ever before, electronic health records have been widely adopted, genomic analysis costs have dropped significantly, data science has become increasingly sophisticated and health technologies have become mobile. We have to seize this moment to invest in these promising scientific opportunities to help Americans live healthier lives.”

The report also proposes an innovative strategy to allow any person living in the United States to voluntarily enroll in the study directly or through participating healthcare provider organizations. Participants would volunteer to share core data including their electronic health records, health survey information and mobile health data on lifestyle habits and environmental exposures. They would also undergo a standard baseline exam for vital signs, medication assessment and past medical history and provide a blood sample. In return, participants will have access to their study results, along with aggregated results from all study participants, and will be provided with tools to make sense of the results. All of this will be accomplished with essential privacy and security safeguards. The Precision Medicine Initiative cohort would be a highly interactive research model with participants as partners in the development and implementation of the research and with significant representation in governance and oversight.

The report also recommends that NIH appoint a director of the program with institutional authority, professional expertise and structural support to lead the effort. NIH agrees that such leadership will be instrumental to the success of the study and will immediately launch a vigorous national search for a candidate. NIH has appointed Josephine P. Briggs, M.D., as the interim director of the NIH Precision Medicine Initiative Cohort Program. Dr. Briggs, a nephrologist, is the director of the National Center for Complementary and Integrative Health. Her own research has focused on mechanisms of diabetic kidney disease. She brings extensive experience in oversight of clinical research to interim leadership of this program.

“I want to commend the Precision Medicine Initiative Working Group. They worked at unprecedented speed with an incredible amount of passion to deliver an excellent plan,” said Dr. Collins.

There are many components of the President’s Precision Medicine Initiative and many federal partners, including the U.S. Food and Drug Administration and the HHS Office of the National Coordinator of Health Information Technology.

The ACD advises the NIH Director on policy matters important to the NIH mission of conducting and supporting biomedical and behavioral research, research training, and translating research results for the public.

For more information about the Precision Medicine Initiative and the ACD working group:

The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/institutes-nih/nih-office-director.

About the National Institutes of Health (NIH):
NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.